Maria T. Acosta

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

This study uses diffusion tensor imaging and correlational fiber tractography to show neurobiological differences between Tay-Sachs and Sandhoff diseases, with greater cerebellar pathology in Tay-Sachs patients.

This study evaluates automated MRI segmentation pipelines in GM1 gangliosidosis patients and controls, finding some methods comparable to manual segmentation for specific brain structures.

This study uses differential tractography to quantify white matter changes in GM1 patients and controls, showing degradation in patients and growth in controls, with correlations to clinical scores.

This study presents a 10-year prospective analysis of type II GM1 gangliosidosis, detailing disease progression and phenotypic features in 41 patients.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

This study shows that Nf1 loss-of-function disrupts corticocortical and corticostriatal functional connectivity in both human NF1 patients and Nf1+/- mice.